News

jmg.bmj6d
Excess of singleton loss-of-function variants in Parkinson’s disease contributes to genetic risk
Background Parkinson’s disease (PD) is a neurodegenerative disorder with complex genetic architecture. Besides rare mutations in high-risk genes related to monogenic familial forms of PD, multiple ...
jmg.bmj3d
A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25
METHODS A large family is described in which mental retardation segregates as an X linked trait. Six affected males in three generations were studied by linkage and clinical examination. RESULTS ...
jmg.bmj3d
UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants
2 North West Thames Regional Genetics Service, Kennedy-Galton Centre, London North West University Healthcare NHS Trust, Harrow, UK This is an open access article distributed in accordance with the ...
jmg.bmj4d
Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus
Purpose: To determine a gene locus for a family with a dominantly inherited vestibulocerebellar disorder characterised by early onset, but not congenital nystagmus. Design: Observational and ...
jmg.bmj6d
Advances in genetic technologies result in improved diagnosis of mismatch repair deficiency in colorectal and endometrial cancers
Background Testing cancers for mismatch repair deficiency (dMMR) by immunohistochemistry (IHC) is a quick and inexpensive means of triaging individuals for germline Lynch syndrome testing. The aim of ...
jmg.bmj6d
Chromosome 2 (2p16) abnormalities in Carney complex tumours
1 Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA 2 Surgical ...
jmg.bmj8d
Severe neonatal manifestations of Costello syndrome
Clinical Genetic Service, Department of Health, Hong Kong SAR, China Background: Costello syndrome (CS) is due to mutations in HRAS, with the most common mutation being c.34G>A (p.G12S), found in most ...
jmg.bmj10d
CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease
1 Department of Medical Genetics, Centre for Molecular Medicine & Therapeutics, University of British Columbia, Vancouver, British Columbia, Canada 2 Department of Clinical Genetics, Centre for Human ...
jmg.bmj6d
Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints
1 Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Butenfeld 42, D-22529 Hamburg, Germany 2 Institute of Pathology, University Hospital Hamburg-Eppendorf, Martinistrasse 52, D-20251 ...
jmg.bmj11d
What did we learn from the genome-wide association study for tuberculosis susceptibility?
Correspondence to Dr Hui-Qi Qu, University of Texas Health Science Center at Houston, School of Public Health, Brownsville campus, 80 Fort Brown, SPH Bldg, Brownsville, TX 78520, USA; ...
jmg.bmj11d
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy
1 The Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel 2 The Department of Physiology and Pharmacology, Sackler School of ...
jmg.bmj4d
Bitter taste receptor gene polymorphisms are an important factor in the development of nicotine dependence in African Americans
ACT Center for Tobacco Treatment, Education and Research, Department of Otolaryngology and Communicative Sciences, University of Mississippi Medical Center, Jackson, Mississippi, USA Department of ...